Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values
LRRC41	10489	broad.mit.edu	37	1	46746843	46746843	+	Silent	SNP	C	C	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:46746843C>G	uc001cpn.2	-	5	1754	c.1710G>C	c.(1708-1710)GGG>GGC	p.G570G	LRRC41_uc010omb.1_Silent_p.G570G	NM_006369	NP_006360	Q15345	LRC41_HUMAN	MUF1 protein	570										ovary(2)|breast(1)|pancreas(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCCCTGCATTCCCTGGCACAC	0.577000												
GBP4	115361	broad.mit.edu	37	1	89657071	89657071	+	Silent	SNP	A	A	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:89657071A>G	uc001dnb.2	-	6	905	c.789T>C	c.(787-789)CAT>CAC	p.H263H		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	263						cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTTCGTCCATATGATTTAAAT	0.398000												
PKLR	5313	broad.mit.edu	37	1	155263039	155263039	+	Silent	SNP	G	G	A	rs146708702	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:155263039G>A	uc001fkb.3	-	9	1404	c.1365C>T	c.(1363-1365)ACC>ACT	p.T455T	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.T424T	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	455					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CACCAATGGCGGTGACCTCAG	0.607000												
HHIPL2	79802	broad.mit.edu	37	1	222696035	222696035	+	Missense_Mutation	SNP	G	G	A	rs144597197	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:222696035G>A	uc001hnh.1	-	9	2141	c.2083C>T	c.(2083-2085)CGC>TGC	p.R695C		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	HHIP-like 2 precursor	695					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			ovary(1)	1				GBM - Glioblastoma multiforme(131;0.0185)		TTGCCCTGGCGGACGTGGGGC	0.562000												
WNT9A	7483	broad.mit.edu	37	1	228109319	228109319	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:228109319C>A	uc001hri.2	-	4	1086	c.998G>T	c.(997-999)CGG>CTG	p.R333L		NM_003395	NP_003386	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family,	333					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|pancreas(1)	2		Prostate(94;0.0405)				TGTCACCACCCGGCTCTGTGT	0.652000												
AKT3	10000	broad.mit.edu	37	1	243727110	243727110	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr1:243727110A>C	uc001iab.1	-	9	941	c.860T>G	c.(859-861)ATT>AGT	p.I287S	AKT3_uc001hzz.1_Missense_Mutation_p.I287S	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	AKT3 kinase isoform 1	287	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AAAATCTGTAATTTTTATGTG	0.393000												
NCOA4	8031	broad.mit.edu	37	10	51580946	51580946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr10:51580946C>T	uc001jis.3	+	4	552	c.349C>T	c.(349-351)CAA>TAA	p.Q117*	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Nonsense_Mutation_p.Q133*|NCOA4_uc010qhd.1_Nonsense_Mutation_p.Q133*|NCOA4_uc010qhe.1_Intron|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Nonsense_Mutation_p.Q117*|NCOA4_uc009xoo.2_Nonsense_Mutation_p.Q117*	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	117					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2						TCTAGCCAATCAAGTCTCTGT	0.368000			T	RET	papillary thyroid 							
ZNF143	7702	broad.mit.edu	37	11	9534124	9534124	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:9534124C>A	uc001mhr.2	+	13	1623	c.1505C>A	c.(1504-1506)TCC>TAC	p.S502Y	ZNF143_uc009yfu.2_Missense_Mutation_p.S501Y|ZNF143_uc010rby.1_Missense_Mutation_p.S471Y	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	502					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACACTCATATCCCAGGATGGG	0.458000												
QSER1	79832	broad.mit.edu	37	11	32956285	32956285	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:32956285A>T	uc001mty.2	+	4	3361	c.3094A>T	c.(3094-3096)AGT>TGT	p.S1032C	QSER1_uc001mtz.1_Missense_Mutation_p.S793C|QSER1_uc001mua.2_Missense_Mutation_p.S537C	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1032										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)					GGGTGACGACAGTGGTGTGTC	0.428000												
TYR	7299	broad.mit.edu	37	11	89028354	89028354	+	Missense_Mutation	SNP	A	A	C	rs148363723		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:89028354A>C	uc001pcs.2	+	5	1492	c.1410A>C	c.(1408-1410)CAA>CAC	p.Q470H		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	470	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATTTGGAACAAGCGAGTCGGA	0.493000									Oculocutaneous_Albinism			
ATM	472	broad.mit.edu	37	11	108121429	108121429	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:108121429C>A	uc001pkb.1	+	10	1622	c.1237C>A	c.(1237-1239)CTA>ATA	p.L413I	ATM_uc009yxr.1_Missense_Mutation_p.L413I	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	413					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTTTTTAGGCTACAGATTGC	0.318000			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
NTM	50863	broad.mit.edu	37	11	132016184	132016184	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr11:132016184T>G	uc001qgp.2	+	2	840	c.176T>G	c.(175-177)ATT>AGT	p.I59S	NTM_uc001qgm.2_Missense_Mutation_p.I59S|NTM_uc010sch.1_Missense_Mutation_p.I50S|NTM_uc010sci.1_Missense_Mutation_p.I59S|NTM_uc010scj.1_Missense_Mutation_p.I18S|NTM_uc001qgo.2_Missense_Mutation_p.I59S|NTM_uc001qgq.2_Missense_Mutation_p.I59S	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	59	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6						AGGTGCACTATTGACAACCGG	0.567000												
GABARAPL1	23710	broad.mit.edu	37	12	10373115	10373115	+	Silent	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:10373115C>T	uc001qxs.2	+	3	486	c.246C>T	c.(244-246)AAC>AAT	p.N82N	GABARAPL1_uc010shb.1_Silent_p.N82N|GABARAPL1_uc001qxt.2_RNA|GABARAPL1_uc001qxu.2_RNA	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	GABA(A) receptor-associated protein like 1	82						autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule	beta-tubulin binding|GABA receptor binding				0						TTGTCAACAACACCATCCCTC	0.498000												
KLRC3	3823	broad.mit.edu	37	12	10588583	10588583	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:10588583C>A	uc001qyh.2	-	1	10	c.3G>T	c.(1-3)ATG>ATT	p.M1I	KLRC2_uc010she.1_Missense_Mutation_p.M1I|KLRC2_uc001qyk.2_Missense_Mutation_p.M1I	NM_002261	NP_002252	Q07444	NKG2E_HUMAN	killer cell lectin-like receptor subfamily C,	1	Cytoplasmic (Potential).				cellular defense response	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|skin(1)	3						TTTGTTTATTCATCTCTGCAG	0.448000												
BICD1	636	broad.mit.edu	37	12	32481286	32481286	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:32481286C>T	uc001rku.2	+	5	1978	c.1897C>T	c.(1897-1899)CGG>TGG	p.R633W	BICD1_uc001rkv.2_Missense_Mutation_p.R633W|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	633					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCATAATCCGGGACCAAAT	0.483000												
RPAP3	79657	broad.mit.edu	37	12	48091496	48091496	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:48091496T>C	uc001rpr.2	-	4	417	c.301A>G	c.(301-303)ATC>GTC	p.I101V	RPAP3_uc010slk.1_5'UTR|RPAP3_uc001rps.2_Missense_Mutation_p.I101V	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3 isoform	101							binding			ovary(1)	1	Lung SC(27;0.192)					TCATCAAGGATACGGTCCTAA	0.353000												
RDH16	8608	broad.mit.edu	37	12	57348759	57348759	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:57348759C>T	uc001smi.3	-	2	675	c.503G>A	c.(502-504)CGG>CAG	p.R168Q	RDH16_uc009zpa.2_Intron	NM_003708	NP_003699	O75452	RDH16_HUMAN	retinol dehydrogenase 16	168	Cytoplasmic (Potential).				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity				0						AAGTGACACCCGGCCCATGAC	0.587000												
TSPAN31	6302	broad.mit.edu	37	12	58139600	58139600	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:58139600A>G	uc001spt.2	+	2	290	c.136A>G	c.(136-138)ATC>GTC	p.I46V	TSPAN31_uc009zqb.2_Missense_Mutation_p.I46V|TSPAN31_uc010ssa.1_5'UTR	NM_005981	NP_005972	Q12999	TSN31_HUMAN	sarcoma amplified sequence	46	Helical; (Potential).				positive regulation of cell proliferation	integral to plasma membrane|membrane fraction					0	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CATCCACATCATCGGCGGAGT	0.542000												
ASCL1	429	broad.mit.edu	37	12	103352565	103352565	+	Silent	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:103352565C>T	uc001tjr.3	+	1	1114	c.543C>T	c.(541-543)AGC>AGT	p.S181S		NM_004316	NP_004307	P50553	ASCL1_HUMAN	achaete-scute complex homolog 1	181					cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity				0						ACGCGGTGAGCGCCGCCTTCC	0.647000												
ACACB	32	broad.mit.edu	37	12	109680320	109680320	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr12:109680320C>G	uc001tob.2	+	37	5220	c.5101C>G	c.(5101-5103)CTG>GTG	p.L1701V	ACACB_uc001toc.2_Missense_Mutation_p.L1701V|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.L367V	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1701					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	CACCAAGGATCTGCTCCAGGC	0.567000												
SERPINE3	647174	broad.mit.edu	37	13	51921358	51921358	+	Missense_Mutation	SNP	G	G	A	rs116923084	by1000genomes	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr13:51921358G>A	uc001vfh.2	+	3	748	c.688G>A	c.(688-690)GAG>AAG	p.E230K	SERPINE3_uc010tgp.1_Missense_Mutation_p.E230K	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	nexin-related serine protease inhibitor	230					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCAAACGACCGAGGTCAACTA	0.582000												
SLITRK1	114798	broad.mit.edu	37	13	84454740	84454740	+	Silent	SNP	T	T	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr13:84454740T>C	uc001vlk.2	-	1	1789	c.903A>G	c.(901-903)CCA>CCG	p.P301P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	301	Extracellular (Potential).					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGCAGACCCTGGTGTGGCAT	0.557000												
KIF26A	26153	broad.mit.edu	37	14	104624226	104624226	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr14:104624226G>A	uc001yos.3	+	4	870	c.870G>A	c.(868-870)CCG>CCA	p.P290P		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	290					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			pancreas(1)	1		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCCCACCCCGGGCTCGGTGG	0.692000												
GABRA5	2558	broad.mit.edu	37	15	27128531	27128531	+	Missense_Mutation	SNP	G	G	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr15:27128531G>T	uc001zbd.1	+	7	663	c.324G>T	c.(322-324)AGG>AGT	p.R108S	GABRB3_uc001zbb.2_Intron	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	108	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGATGAAAGGCTTCGGTTTA	0.572000												
LINGO1	84894	broad.mit.edu	37	15	77907869	77907869	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr15:77907869C>T	uc002bct.1	-	2	432	c.380G>A	c.(379-381)CGC>CAC	p.R127H	LINGO1_uc002bcu.1_Missense_Mutation_p.R121H	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	127	Extracellular (Potential).|LRR 3.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						GCGGTTGCTGCGGAGACCCAG	0.602000												
ACSBG1	23205	broad.mit.edu	37	15	78526816	78526816	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr15:78526816C>T	uc002bdh.2	-	1	84	c.28G>A	c.(28-30)GGC>AGC	p.G10S	ACSBG1_uc010umw.1_Missense_Mutation_p.G10S|ACSBG1_uc010umx.1_5'UTR|ACSBG1_uc010umy.1_5'UTR	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	lipidosin	10					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			ovary(1)	1						TGTGGGCAGCCGTATCCAGCT	0.582000												
KSR1	8844	broad.mit.edu	37	17	25924413	25924413	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:25924413G>A	uc010crg.2	+	10	1453	c.1008G>A	c.(1006-1008)ACG>ACA	p.T336T	KSR1_uc002gzj.1_RNA|KSR1_uc002gzm.2_Silent_p.T137T	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras	471					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|central_nervous_system(1)	4	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCGCCACCACGCCCCCCAACC	0.617000												
JUP	3728	broad.mit.edu	37	17	39919515	39919515	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:39919515T>C	uc002hxq.2	-	8	1494	c.1217A>G	c.(1216-1218)AAC>AGC	p.N406S	JUP_uc010wfs.1_Intron|JUP_uc002hxr.2_Missense_Mutation_p.N406S|JUP_uc002hxs.2_Missense_Mutation_p.N406S	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	406	ARM 5.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GGTGAGGACGTTGACGTCATC	0.577000												
THOC4	10189	broad.mit.edu	37	17	79846121	79846121	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:79846121G>C	uc002kbu.2	-	5	782	c.776C>G	c.(775-777)GCG>GGG	p.A259G		NM_005782	NP_005773	Q86V81	THOC4_HUMAN	THO complex 4	252					intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTCACTCTCGCATTATAGGC	0.632000												
DTNA	1837	broad.mit.edu	37	18	32398276	32398276	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr18:32398276G>A	uc010dmn.1	+	7	859	c.858G>A	c.(856-858)ATG>ATA	p.M286I	DTNA_uc002kxu.2_Missense_Mutation_p.M286I|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Missense_Mutation_p.M286I|DTNA_uc002kxw.2_Missense_Mutation_p.M286I|DTNA_uc002kxx.2_Missense_Mutation_p.M286I|DTNA_uc010dmj.2_Missense_Mutation_p.M286I|DTNA_uc002kxz.2_Missense_Mutation_p.M286I|DTNA_uc002kxy.2_Missense_Mutation_p.M286I|DTNA_uc010dmk.1_RNA|DTNA_uc010dml.2_Missense_Mutation_p.M286I|DTNA_uc002kyb.3_Missense_Mutation_p.M286I|DTNA_uc010dmm.2_Missense_Mutation_p.M286I|DTNA_uc010xby.1_Missense_Mutation_p.M36I|DTNA_uc010dmo.2_5'Flank|DTNA_uc002kyd.3_5'Flank|DTNA_uc010xbz.1_5'Flank|DTNA_uc010xca.1_5'Flank|DTNA_uc002kye.2_5'Flank	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	dystrobrevin alpha isoform 1	286	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0						AGCACCAAATGAAAGAGTACA	0.502000												
TMEM91	641649	broad.mit.edu	37	19	41888765	41888765	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:41888765T>C	uc002oqk.3	+	3	650	c.299T>C	c.(298-300)GTC>GCC	p.V100A	CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.V100A|TMEM91_uc010ehq.2_Missense_Mutation_p.V100A|TMEM91_uc002oql.2_Missense_Mutation_p.V100A|TMEM91_uc010ehr.2_Missense_Mutation_p.V100A|TMEM91_uc010ehs.2_Missense_Mutation_p.V100A|TMEM91_uc010eht.2_Missense_Mutation_p.V100A|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Missense_Mutation_p.V100A	NM_001098821	NP_001092291	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91 isoform a	100	Helical; (Potential).				response to biotic stimulus	integral to membrane					0						GGCTTGGCTGTCTTCTCCATG	0.567000												
DBP	1628	broad.mit.edu	37	19	49136834	49136834	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:49136834G>A	uc002pjx.3	-	3	1017	c.629C>T	c.(628-630)GCT>GTT	p.A210V	DBP_uc002pjy.2_3'UTR|DBP_uc010elz.1_Missense_Mutation_p.A210V	NM_001352	NP_001343	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box)	210	Pro-rich (proline/acidic region (PAR)).				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GGCAAGATCAGCTGGGTCGGG	0.557000												
SHANK1	50944	broad.mit.edu	37	19	51192535	51192535	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:51192535C>T	uc002psx.1	-	15	1985	c.1966G>A	c.(1966-1968)GAT>AAT	p.D656N	SHANK1_uc002psw.1_Missense_Mutation_p.D40N	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	656					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGATGTAATCGCTGGCAGGG	0.607000												
SIGLEC10	89790	broad.mit.edu	37	19	51918541	51918541	+	Silent	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:51918541C>T	uc002pwo.2	-	7	1840	c.1224G>A	c.(1222-1224)GGG>GGA	p.G408G	SIGLEC10_uc002pwp.2_Silent_p.G350G|SIGLEC10_uc002pwq.2_Silent_p.G350G|SIGLEC10_uc002pwr.2_Silent_p.G408G|SIGLEC10_uc010ycy.1_Silent_p.G318G|SIGLEC10_uc010ycz.1_Silent_p.G360G|SIGLEC10_uc010eow.2_Silent_p.G220G|SIGLEC10_uc002pws.1_Silent_p.G244G	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10 precursor	408	Ig-like C2-type 3.|Extracellular (Potential).				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GCTCCAGGACCCCGGGGTCTG	0.672000												
NLRP7	199713	broad.mit.edu	37	19	55451653	55451653	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:55451653G>A	uc002qih.3	-	4	610	c.534C>T	c.(532-534)GGC>GGT	p.G178G	NLRP7_uc002qig.3_Silent_p.G178G|NLRP7_uc002qii.3_Silent_p.G178G|NLRP7_uc010esk.2_Silent_p.G178G|NLRP7_uc010esl.2_Silent_p.G206G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	178	NACHT.|ATP (Potential).						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)		CGCCTGCGGGGCCGTGCAGCA	0.547000												
NLRP13	126204	broad.mit.edu	37	19	56419268	56419268	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:56419268C>A	uc010ygg.1	-	7	2362	c.2337G>T	c.(2335-2337)CAG>CAT	p.Q779H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	779							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGCTGTTACCCTGAAGGGCAA	0.502000												
ZNF551	90233	broad.mit.edu	37	19	58199305	58199305	+	Silent	SNP	T	T	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:58199305T>A	uc002qpw.3	+	3	1837	c.1614T>A	c.(1612-1614)ACT>ACA	p.T538T	ZNF551_uc002qpv.3_Silent_p.T481T|ZNF776_uc002qpx.2_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	zinc finger protein 551	554					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACTTCATACTGGAGAAAGGC	0.458000												
ADAM17	6868	broad.mit.edu	37	2	9676834	9676834	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:9676834G>A	uc002qzu.2	-	3	537	c.354C>T	c.(352-354)CAC>CAT	p.H118H	ADAM17_uc010ewy.2_Silent_p.H118H|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exb.1_Silent_p.H118H|ADAM17_uc002qzv.2_Silent_p.H118H	NM_003183	NP_003174	P78536	ADA17_HUMAN	a disintegrin and metalloprotease domain 17	118					B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			lung(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AACCAACCACGTGTCCAGTGA	0.428000												
SOS1	6654	broad.mit.edu	37	2	39213093	39213093	+	Missense_Mutation	SNP	C	C	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:39213093C>A	uc002rrk.3	-	23	3915	c.3874G>T	c.(3874-3876)GTT>TTT	p.V1292F	SOS1_uc002rrj.3_Missense_Mutation_p.V891F	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	1292					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				CGTGGAGGAACAGGCGGCCCA	0.512000									Noonan_syndrome			
PRPF40A	55660	broad.mit.edu	37	2	153572629	153572629	+	Silent	SNP	A	A	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:153572629A>G	uc002tyi.2	-	2	190	c.177T>C	c.(175-177)CCT>CCC	p.P59P	ARL6IP6_uc002tyn.2_5'Flank|ARL6IP6_uc002tym.2_5'Flank|PRPF40A_uc002tyh.3_Silent_p.P32P|PRPF40A_uc010zcd.1_Silent_p.P32P|PRPF40A_uc002tyj.2_5'UTR|PRPF40A_uc002tyl.1_Silent_p.P59P	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	59					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0						AATGCATGCCAGGGTGCCCCA	0.443000												
ITGA6	3655	broad.mit.edu	37	2	173335747	173335747	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:173335747A>C	uc002uhp.1	+	5	892	c.689A>C	c.(688-690)AAC>ACC	p.N230T	ITGA6_uc010fqk.1_Missense_Mutation_p.N116T|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Missense_Mutation_p.N230T|ITGA6_uc010fql.2_RNA	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	230	Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTGACATGAACATCTTTGAA	0.373000												
DOCK10	55619	broad.mit.edu	37	2	225714253	225714253	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:225714253G>A	uc010fwz.1	-	19	2445	c.2206C>T	c.(2206-2208)CAC>TAC	p.H736Y	DOCK10_uc002vob.2_Missense_Mutation_p.H730Y	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	736	DHR-1.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTCTGAGAGTGGTGCAGAACT	0.483000												
COL6A3	1293	broad.mit.edu	37	2	238303388	238303388	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr2:238303388G>A	uc002vwl.2	-	3	836	c.551C>T	c.(550-552)GCG>GTG	p.A184V	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Intron|COL6A3_uc002vwr.2_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.A184V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	184	VWFA 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCTTTTAACGCTCCTTCATC	0.438000												
HCK	3055	broad.mit.edu	37	20	30671747	30671747	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:30671747G>A	uc002wxh.2	+	7	754	c.583G>A	c.(583-585)GTG>ATG	p.V195M	HCK_uc010gdy.2_Missense_Mutation_p.V174M|HCK_uc002wxi.2_Missense_Mutation_p.V173M	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	195	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGAGATACCGTGAAACATTA	0.552000												
NPEPL1	79716	broad.mit.edu	37	20	57269511	57269511	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:57269511G>A	uc010zzs.1	+	3	465	c.370G>A	c.(370-372)GCC>ACC	p.A124T	NPEPL1_uc010zzr.1_Missense_Mutation_p.A76T|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Missense_Mutation_p.A96T|NPEPL1_uc002xzp.2_Missense_Mutation_p.A12T	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	124					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity				0	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			CTTTGCTTCCGCCTGTGCCCT	0.662000												
BHLHE23	128408	broad.mit.edu	37	20	61637750	61637750	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:61637750C>T	uc002yeb.2	-	1	638	c.329G>A	c.(328-330)CGG>CAG	p.R110Q	uc002yec.1_5'Flank	NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	110	Arg-rich.|Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						CATGcgccgccgctcgcgcgc	0.313000												
CHRNA4	1137	broad.mit.edu	37	20	61981757	61981757	+	Missense_Mutation	SNP	G	G	A	rs56175056	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr20:61981757G>A	uc002yes.2	-	5	1184	c.1006C>T	c.(1006-1008)CGC>TGC	p.R336C	CHRNA4_uc002yet.1_Missense_Mutation_p.R160C|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.R265C|CHRNA4_uc002yev.1_Missense_Mutation_p.R160C|CHRNA4_uc010gkf.1_Missense_Mutation_p.R160C	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	336	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GTGTGCGTGCGTGGCGAGCGG	0.612000												
APP	351	broad.mit.edu	37	21	27254029	27254029	+	Silent	SNP	G	G	A	rs142218254		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr21:27254029G>A	uc002ylz.2	-	18	2465	c.2265C>T	c.(2263-2265)AAC>AAT	p.N755N	APP_uc011acg.1_Silent_p.N263N|APP_uc010glk.2_Silent_p.N731N|APP_uc002yma.2_Silent_p.N736N|APP_uc011ach.1_Silent_p.N699N|APP_uc002ymb.2_Silent_p.N680N|APP_uc010glj.2_Silent_p.N624N|APP_uc011aci.1_Silent_p.N645N	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	755	Cytoplasmic (Potential).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)				TTTCGTAGCCGTTCTGCTGCA	0.478000											OREG0026148	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAMTS1	9510	broad.mit.edu	37	21	28214836	28214836	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr21:28214836T>C	uc002ymf.2	-	2	1354	c.899A>G	c.(898-900)AAT>AGT	p.N300S		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	300	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GCTAACTGAATTACGAATGCT	0.517000												
HMOX1	3162	broad.mit.edu	37	22	35789509	35789509	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr22:35789509G>A	uc003ant.1	+	5	865	c.785G>A	c.(784-786)CGC>CAC	p.R262H		NM_002133	NP_002124	P09601	HMOX1_HUMAN	heme oxygenase (decyclizing) 1	262					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			ovary(1)	1					NADH(DB00157)	CTCAACACCCGCTCCCAGGCT	0.577000												
TMPPE	643853	broad.mit.edu	37	3	33135527	33135527	+	Missense_Mutation	SNP	G	G	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:33135527G>C	uc003cfk.2	-	2	352	c.161C>G	c.(160-162)TCG>TGG	p.S54W	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Intron	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN	transmembrane protein with	54	Helical; (Potential).					integral to membrane	metal ion binding				0						GAGCAAGAGCGAGTTGACAAA	0.572000												
HPS3	84343	broad.mit.edu	37	3	148889990	148889990	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:148889990G>A	uc003ewu.1	+	17	3136	c.2996G>A	c.(2995-2997)CGA>CAA	p.R999Q	CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.R834Q|HPS3_uc003ewv.1_RNA	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	999						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATTGCAGTCGAAAGAAACCA	0.348000									Hermansky-Pudlak_syndrome			
GPR149	344758	broad.mit.edu	37	3	154139263	154139263	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:154139263G>A	uc003faa.2	-	3	1288	c.1188C>T	c.(1186-1188)GGC>GGT	p.G396G		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	396	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGAATTCAAAGCCTTTTCTCT	0.279000												
SLC26A1	10861	broad.mit.edu	37	4	983161	983161	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:983161G>A	uc003gcb.2	-	4	1944	c.1566C>T	c.(1564-1566)TAC>TAT	p.Y522Y	SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Silent_p.Y522Y	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	solute carrier family 26, member 1 isoform a	522						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCATCCTCGTAGAAGGCCG	0.687000												
LETM1	3954	broad.mit.edu	37	4	1843118	1843118	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:1843118G>A	uc003gdv.2	-	3	847	c.550C>T	c.(550-552)CGC>TGC	p.R184C	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Missense_Mutation_p.R184C	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	184	Mitochondrial intermembrane (Potential).|LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TTGAGGATGCGCCAGAGCATG	0.527000												
WDFY3	23001	broad.mit.edu	37	4	85701357	85701357	+	Silent	SNP	A	A	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:85701357A>G	uc003hpd.2	-	26	4677	c.4269T>C	c.(4267-4269)GAT>GAC	p.D1423D		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1423						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCCTTCCACATCAGAGGCCA	0.507000												
EGF	1950	broad.mit.edu	37	4	110882065	110882065	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:110882065G>A	uc003hzy.3	+	7	1561	c.1109G>A	c.(1108-1110)GGG>GAG	p.G370E	EGF_uc011cfu.1_Missense_Mutation_p.G328E|EGF_uc011cfv.1_Missense_Mutation_p.G370E	NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor precursor	370	EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGTACTCTTGGGTGTAAAAAC	0.393000												
DCHS2	54798	broad.mit.edu	37	4	155254019	155254019	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr4:155254019T>C	uc003inw.2	-	9	1844	c.1844A>G	c.(1843-1845)CAG>CGG	p.Q615R	DCHS2_uc003inx.2_Missense_Mutation_p.Q1114R	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	615	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGCTGCACGCTGGGGGCCAAG	0.542000												
SLC45A2	51151	broad.mit.edu	37	5	33951681	33951681	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:33951681G>A	uc003jid.2	-	5	1226	c.1134C>T	c.(1132-1134)TCC>TCT	p.S378S	SLC45A2_uc003jie.2_Silent_p.S378S|SLC45A2_uc003jif.3_3'UTR|SLC45A2_uc011coe.1_3'UTR	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	membrane-associated transporter protein isoform	378	Helical; Name=8; (Potential).				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						AGGAAAACACGGAGTTGATGC	0.433000												
TMEM171	134285	broad.mit.edu	37	5	72419284	72419284	+	Silent	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:72419284C>T	uc003kcm.2	+	2	288	c.84C>T	c.(82-84)TTC>TTT	p.F28F	TMEM171_uc003kcn.3_Silent_p.F28F	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	28	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTTTGTCTTCGGCGCCGTCT	0.577000												
PCDHB10	56126	broad.mit.edu	37	5	140573784	140573784	+	Silent	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:140573784C>T	uc003lix.2	+	1	1833	c.1659C>T	c.(1657-1659)GAC>GAT	p.D553D		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	553	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.716000												
PCDHGA4	56111	broad.mit.edu	37	5	140736646	140736646	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:140736646C>T	uc003ljq.1	+	1	1879	c.1879C>T	c.(1879-1881)CGC>TGC	p.R627C	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.R627C	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	627	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCGAGGTGCGCACCGCACG	0.632000												
PDGFRB	5159	broad.mit.edu	37	5	149505106	149505106	+	Missense_Mutation	SNP	T	T	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:149505106T>G	uc003lro.2	-	12	2178	c.1709A>C	c.(1708-1710)GAG>GCG	p.E570A	PDGFRB_uc010jhd.2_Missense_Mutation_p.E409A	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	570	Cytoplasmic (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCACAGACTCAATCACCTT	0.577000			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML							
C5orf40	408263	broad.mit.edu	37	5	156770404	156770404	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:156770404G>A	uc003lwu.2	-	2	329	c.141C>T	c.(139-141)AGC>AGT	p.S47S	CYFIP2_uc003lwq.2_Intron|CYFIP2_uc011ddn.1_Intron|CYFIP2_uc011ddo.1_Intron|CYFIP2_uc003lwr.2_Intron|CYFIP2_uc003lws.2_Intron|CYFIP2_uc003lwt.2_Intron|CYFIP2_uc011ddp.1_Intron	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	hypothetical protein LOC408263	47	Fibronectin type-III.					integral to membrane					0	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGTGGTGGAAGCTGTAGCGAA	0.537000												
GABRA1	2554	broad.mit.edu	37	5	161300176	161300176	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:161300176A>C	uc010jiw.2	+	6	777	c.309A>C	c.(307-309)AAA>AAC	p.K103N	GABRA1_uc010jix.2_Missense_Mutation_p.K103N|GABRA1_uc010jiy.2_Missense_Mutation_p.K103N|GABRA1_uc003lyx.3_Missense_Mutation_p.K103N|GABRA1_uc010jiz.2_Missense_Mutation_p.K103N|GABRA1_uc010jja.2_Missense_Mutation_p.K103N|GABRA1_uc010jjb.2_Missense_Mutation_p.K103N	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	103	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAAGGTTAAAATTTAAAGGAC	0.383000												
FOXI1	2299	broad.mit.edu	37	5	169535494	169535495	+	Missense_Mutation	DNP	AC	AC	CA			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr5:169535494_169535495AC>CA	uc003mai.3	+	2	1061_1062	c.1016_1017AC>CA	c.(1015-1017)AAC>ACA	p.N339T	FOXI1_uc003maj.3_Missense_Mutation_p.N244T	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	339					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACTGGGCGAACCCCATGCCCA	0.579000									Pendred_syndrome			
SLC17A1	6568	broad.mit.edu	37	6	25813353	25813353	+	Silent	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:25813353C>T	uc003nfh.3	-	7	821	c.705G>A	c.(703-705)AAG>AAA	p.K235K	SLC17A1_uc011djy.1_Intron|SLC17A1_uc010jqb.1_Silent_p.K233K|SLC17A1_uc010jqc.1_Silent_p.K233K	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	235					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						TGATGTATTCCTTTTCACTGA	0.448000												
BAT2	7916	broad.mit.edu	37	6	31605358	31605358	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:31605358C>T	uc003nvb.3	+	31	6718	c.6469C>T	c.(6469-6471)CGC>TGC	p.R2157C	BAT2_uc003nvc.3_Missense_Mutation_p.R2157C	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	2157						cytoplasm|nucleus	protein binding				0						GCCCCCACCCCGCTGAGGGAG	0.662000												
MCM3	4172	broad.mit.edu	37	6	52137104	52137104	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:52137104C>T	uc003pan.1	-	12	1932	c.1822G>A	c.(1822-1824)GCC>ACC	p.A608T	MCM3_uc011dwu.1_Missense_Mutation_p.A562T	NM_002388	NP_002379	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	608					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)|lung(1)|skin(1)	3	Lung NSC(77;0.0931)					CTCACCCTGGCGGTGTCTGAG	0.552000												
BAI3	577	broad.mit.edu	37	6	70049284	70049284	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:70049284C>T	uc003pev.3	+	26	3795	c.3347C>T	c.(3346-3348)GCG>GTG	p.A1116V	BAI3_uc010kak.2_Missense_Mutation_p.A1116V|BAI3_uc011dxx.1_Missense_Mutation_p.A322V|BAI3_uc003pex.1_Missense_Mutation_p.A246V	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1116	Helical; Name=6; (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				TGGATGTCTGCGGTTCTGGCC	0.443000												
FILIP1	27145	broad.mit.edu	37	6	76023075	76023075	+	Missense_Mutation	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:76023075G>A	uc003pia.2	-	5	2846	c.2473C>T	c.(2473-2475)CGG>TGG	p.R825W	FILIP1_uc003phy.1_Missense_Mutation_p.R825W|FILIP1_uc003phz.2_Missense_Mutation_p.R726W|FILIP1_uc010kbe.2_Missense_Mutation_p.R828W|FILIP1_uc003pib.1_Missense_Mutation_p.R577W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	825										skin(3)|ovary(1)	4						AAGGATTTCCGTATGAATACA	0.463000												
MDN1	23195	broad.mit.edu	37	6	90387382	90387382	+	Missense_Mutation	SNP	C	C	T	rs77256291	byFrequency	TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:90387382C>T	uc003pnn.1	-	76	12562	c.12446G>A	c.(12445-12447)CGT>CAT	p.R4149H		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4149					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTTTTGAACGGGCCCAAGC	0.463000												
FUT9	10690	broad.mit.edu	37	6	96651315	96651315	+	Missense_Mutation	SNP	C	C	T	rs144101900		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:96651315C>T	uc003pop.3	+	3	625	c.284C>T	c.(283-285)ACG>ATG	p.T95M		NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3)	95	Lumenal (Potential).				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			skin(4)|ovary(1)	5		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CATCTCACAACGGACCGTTCA	0.478000												
KIAA1244	57221	broad.mit.edu	37	6	138617959	138617959	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:138617959C>T	uc003qhu.2	+	21	3515	c.3515C>T	c.(3514-3516)TCC>TTC	p.S1172F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	1172					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GAAGTTAAATCCACTCAAGAC	0.502000												
SHPRH	257218	broad.mit.edu	37	6	146214432	146214432	+	Missense_Mutation	SNP	T	T	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:146214432T>C	uc003qlf.2	-	28	5192	c.4793A>G	c.(4792-4794)CAT>CGT	p.H1598R	SHPRH_uc003qld.2_Missense_Mutation_p.H1602R|SHPRH_uc003qle.2_Missense_Mutation_p.H1602R	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1598	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAAGAGAACATGAGTTGCTTC	0.443000												
PDE10A	10846	broad.mit.edu	37	6	165809927	165809927	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr6:165809927A>G	uc003qun.2	-	15	1511	c.1270T>C	c.(1270-1272)TCA>CCA	p.S424P	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.S354P|PDE10A_uc003quo.2_Missense_Mutation_p.S434P	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	424					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ATGCACTCTGAGTGGCGAATT	0.403000												
ZDHHC4	55146	broad.mit.edu	37	7	6623050	6623050	+	Missense_Mutation	SNP	T	T	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:6623050T>A	uc003sqi.2	+	7	842	c.484T>A	c.(484-486)TCC>ACC	p.S162T	ZDHHC4_uc003sqg.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sql.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqh.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqj.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqk.2_Missense_Mutation_p.S162T|ZDHHC4_uc003sqm.2_Missense_Mutation_p.S162T	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	162	DHHC-type.					integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|pancreas(1)	2		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACCAGCTCGATCCAAGCACTG	0.448000												
SP8	221833	broad.mit.edu	37	7	20824781	20824781	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:20824781C>T	uc003suy.2	-	3	842	c.601G>A	c.(601-603)GAG>AAG	p.E201K	SP8_uc003suz.2_Missense_Mutation_p.E219K	NM_198956	NP_945194	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor isoform 2	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1						GAGCCCACCTCGCCCGCAGCA	0.731000												
ABCA13	154664	broad.mit.edu	37	7	48312083	48312083	+	Missense_Mutation	SNP	A	A	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:48312083A>C	uc003toq.2	+	17	2845	c.2820A>C	c.(2818-2820)GAA>GAC	p.E940D	ABCA13_uc010kyr.2_Missense_Mutation_p.E443D	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	940					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						AAAAACAAGAAGTTGATAAAA	0.368000												
PEG10	23089	broad.mit.edu	37	7	94293259	94293259	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:94293259C>T	uc011kie.1	+	2	836	c.619C>T	c.(619-621)CGT>TGT	p.R207C		NM_001040152	NP_001035242	Q86TG7	PEG10_HUMAN	paternally expressed 10 isoform RF1	131	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCGTGCTGCCCGTTGGGCCTC	0.547000												
SLC37A3	84255	broad.mit.edu	37	7	140045671	140045671	+	Missense_Mutation	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:140045671C>T	uc003vvo.2	-	11	1290	c.1124G>A	c.(1123-1125)AGT>AAT	p.S375N	SLC37A3_uc003vvn.2_5'Flank|SLC37A3_uc003vvp.2_Intron|SLC37A3_uc010lnh.2_Missense_Mutation_p.S375N	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	solute carrier family 37 (glycerol-3-phosphate	375	Helical; (Potential).				carbohydrate transport|transmembrane transport	integral to membrane				ovary(3)	3	Melanoma(164;0.0142)					ATACTCACGACTATACCCGAT	0.493000												
NOM1	64434	broad.mit.edu	37	7	156755738	156755738	+	Missense_Mutation	SNP	C	C	T	rs138117452		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr7:156755738C>T	uc003wmy.2	+	6	1795	c.1780C>T	c.(1780-1782)CGC>TGC	p.R594C	NOM1_uc010lqp.1_Missense_Mutation_p.R43C	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	594					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GACGCAGCTTCGCGTCTCCTG	0.562000												
DENND3	22898	broad.mit.edu	37	8	142165949	142165949	+	Missense_Mutation	SNP	A	A	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr8:142165949A>T	uc003yvy.2	+	8	1114	c.836A>T	c.(835-837)GAA>GTA	p.E279V	DENND3_uc010mep.2_Missense_Mutation_p.E292V|DENND3_uc003yvz.1_5'Flank	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	279	DENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GTTTTCTAGGAAGCCGACGGT	0.393000												
CYC1	1537	broad.mit.edu	37	8	145150852	145150852	+	Silent	SNP	G	G	C			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr8:145150852G>C	uc003zaz.3	+	2	289	c.246G>C	c.(244-246)GTG>GTC	p.V82V	CYC1_uc003zay.2_Silent_p.V23V	NM_001916	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	82					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATTCGGCTGTGAGTGCCAGTG	0.662000											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
NPR2	4882	broad.mit.edu	37	9	35792588	35792588	+	Silent	SNP	C	C	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:35792588C>T	uc003zyd.2	+	1	183	c.183C>T	c.(181-183)CCC>CCT	p.P61P	NPR2_uc010mlb.2_Silent_p.P61P	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	61	Extracellular (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	GGGCACTGCCCGTGGACCTGC	0.662000												
TJP2	9414	broad.mit.edu	37	9	71852827	71852827	+	Missense_Mutation	SNP	C	C	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:71852827C>G	uc004ahe.2	+	15	2413	c.2213C>G	c.(2212-2214)CCC>CGC	p.P738R	TJP2_uc011lrs.1_Missense_Mutation_p.P715R|TJP2_uc011lrt.1_Missense_Mutation_p.P715R|TJP2_uc004ahd.2_Missense_Mutation_p.P738R|TJP2_uc004ahf.2_Missense_Mutation_p.P738R|TJP2_uc011lru.1_Missense_Mutation_p.P742R|TJP2_uc011lrv.1_Missense_Mutation_p.P760R	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	tight junction protein 2 (zona occludens 2)	738	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0						TTATTCGGCCCCATAGCTGAT	0.363000												
PCSK5	5125	broad.mit.edu	37	9	78711019	78711019	+	Splice_Site	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:78711019G>A	uc004ajz.2	+	8	1645	c.1107_splice	c.e8+1	p.I369_splice	PCSK5_uc004ajy.2_Splice_Site_p.I369_splice|PCSK5_uc004aka.2_Splice_Site	NM_006200	NP_006191	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3						TAAGAAAATCGTACGTGACAT	0.398000												
PRUNE2	158471	broad.mit.edu	37	9	79322403	79322403	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:79322403A>G	uc010mpk.2	-	8	4911	c.4787T>C	c.(4786-4788)GTT>GCT	p.V1596A		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1596					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						CACTTTGGTAACTATTTCTAC	0.373000												
XPA	7507	broad.mit.edu	37	9	100447318	100447318	+	Missense_Mutation	SNP	A	A	G			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:100447318A>G	uc004axr.3	-	5	677	c.560T>C	c.(559-561)GTG>GCG	p.V187A	XPA_uc004axs.3_RNA	NM_000380	NP_000371	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	187					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)	1		Acute lymphoblastic leukemia(62;0.158)				AGACCTCTTCACAATCTACAA	0.338000			Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		NER	Xeroderma_Pigmentosum			
ZER1	10444	broad.mit.edu	37	9	131517699	131517699	+	Missense_Mutation	SNP	C	C	T	rs148381372		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr9:131517699C>T	uc004bwa.1	-	2	579	c.146G>A	c.(145-147)CGG>CAG	p.R49Q		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	49					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						ATTGACGAGCCGGTCACAGAT	0.582000												
NLGN4X	57502	broad.mit.edu	37	X	5821348	5821348	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chrX:5821348G>A	uc010ndh.2	-	5	1872	c.1371C>T	c.(1369-1371)GCC>GCT	p.A457A	NLGN4X_uc004crp.2_Silent_p.A477A|NLGN4X_uc004crq.2_Silent_p.A457A|NLGN4X_uc010ndi.2_Silent_p.A494A|NLGN4X_uc004crr.2_Silent_p.A457A|NLGN4X_uc010ndj.2_Silent_p.A457A	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	X-linked neuroligin 4 precursor	457	Extracellular (Potential).				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			skin(2)|large_intestine(1)|ovary(1)	4						CGTGCAGGTCGGCGGTGGCCA	0.617000												
DCAF8L1	139425	broad.mit.edu	37	X	27998138	27998138	+	Silent	SNP	G	G	A			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chrX:27998138G>A	uc004dbx.1	-	1	1429	c.1314C>T	c.(1312-1314)GAC>GAT	p.D438D		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	438	WD 6.									ovary(3)|skin(1)	4						ATTTGATTGTGTCATTATTTC	0.443000												
AXL	558	broad.mit.edu	37	19	41745064	41745086	+	Splice_Site	DEL	CCTAGGTGCTAATGGACATAGGG	CCTAGGTGCTAATGGACATAGGG	-			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:41745063_41745085TCCTAGGTGCTAATGGACATAGGG>T	uc010ehj.3	+	9	1325	c.1135_splice	c.e9-1	p.V379_splice	AXL_uc010ehi.1_Splice_Site_p.V379_splice|AXL_uc010ehk.3_Splice_Site_p.V379_splice	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	379	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTTCTGGACCTCCTAGGTGCTAATGGACATAGGGCTAAGGCAA	0.574												
CTNNB1	1499	broad.mit.edu	37	3	41266123	41266143	+	In_Frame_Del	DEL	TACCACAGCTCCTTCTCTGAG	TACCACAGCTCCTTCTCTGAG	-	rs121913412		TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr3:41266122_41266142CTACCACAGCTCCTTCTCTGAG>C	uc010hia.1	+	3	275_295	c.119_139CTACCACAGCTCCTTCTCTGAG>C	c.(118-141)actaccacagctccttctctgagt>aCgt	p.TTAPSLS41del	CTNNB1_uc003ckq.2_In_Frame_Del_p.TTAPSLS41del|CTNNB1_uc003ckp.2_In_Frame_Del_p.TTAPSLS41del|CTNNB1_uc003ckr.2_In_Frame_Del_p.TTAPSLS41del|CTNNB1_uc011azf.1_In_Frame_Del_p.TTAPSLS34del|CTNNB1_uc011azg.1_Intron|AK311005_uc010hib.1_Non-coding_Transcript	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(1172)|p.S45F(830)|p.S45P(362)|p.T41I(152)|p.S45del(138)|p.A5_A80del(119)|p.S45Y(43)|p.S45C(42)|p.S45A(23)|p.T40I(23)|p.A5_A80>D(14)|p.A5_Q143del(14)|p.P44A(14)|p.T41N(13)|p.T41P(13)|p.T41S(12)|p.T42R(10)|p.Q28_H134del(10)|p.A43V(10)|p.H24_S47del(9)|p.A43T(8)|p.P44S(8)|p.W25_I140del(7)|p.T42I(6)|p.L46L(6)|p.T42fs*7(6)|p.P44L(5)|p.T3_A126del(4)|p.M5_N141>D(4)|p.S45_S47>C(4)|p.D32_S47del(4)|p.P44_S45del(4)|p.T41T(4)|p.T40T(4)|p.A43P(4)|p.A5_Y142>D(4)|p.T42_A43insSS(4)|p.?(4)|p.L10_N141del(4)|p.T40S(3)|p.S47N(3)|p.S37_G48>C(2)|p.Q28_Q61del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.S47T(2)|p.Y30_A97del(2)|p.T42S(2)|p.T40_L46del(2)|p.Q28_A43del(2)|p.E15_I140>V(2)|p.H24_M131del(2)|p.P44del(2)|p.V22_L139>V(2)|p.A13_R151del(2)|p.M1_A87del(2)|p.L46_S47del(2)|p.P44_N51del(2)|p.V22_T102del(2)|p.S45fs*2(2)|p.T42T(2)|p.S45E(2)|p.A21_A80del(2)|p.P16_K133del(2)|p.S45T(2)|p.S45S(2)|p.T42A(2)|p.A39_T42del(2)|p.I35_K170del(2)|p.L46V(2)|p.M14_S45del(2)|p.Q4_A80del(2)|p.T42_G48del(2)|p.P44_S45insAP(2)|p.S45_G48del(2)|p.T42_K49>Q(2)|p.S45_D58del(2)|p.V22_S71>A(2)|p.A20_A80del(2)|p.A5_T59del(2)|p.M1_V173del(2)|p.M8_A80del(2)|p.Y30_T40del(2)|p.A5_Q143>E(2)|p.H36_E53>L(2)|p.Y30_A80del(2)|p.A5fs*7(2)|p.A43del(2)|p.S45_L46del(2)|p.T41_N51del(2)|p.S47C(2)|p.A5_T40del(2)|p.A5_E54del(2)|p.S47G(2)|p.I35_T41del(2)|p.V22_Y64del(2)|p.A20_S111del(2)|p.D6_A43del(1)|p.E9_S47del(1)|p.A20_R151del(1)|p.D17_P128del(1)|p.L7_I140del(1)|p.G38_S45del(1)|p.M8_L132del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.V22_A80del(1)|p.V22_G80>NNNNN(1)|p.E9_A80del(1)|p.A20_Q143del(1)|p.S23_I140del(1)|p.Q4_D144del(1)|p.D6_I140del(1)|p.Q28_I140del(1)|p.A43_E53del(1)|p.M8_G50del(1)|p.A5_G80>(1)|p.V22_A97del(1)|p.W25_A80del(1)|p.A5_R90del(1)|p.P44_S45>AP(1)|p.T40A(1)|p.S47R(1)|p.E9_I140del(1)|p.A20_Q72del(1)|p.S45_E54del(1)|p.S47I(1)|p.A43_E54del(1)|p.A5_Q72del(1)|p.D6_K133del(1)|p.A5_T42del(1)|p.A5_D144>D(1)|p.D17_A126del(1)|p.Q4_Y142del(1)|p.5_142>(1)|p.P44_S45insGATTTAP(1)|p.M1_T42del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTGGTGCCACTACCACAGCTCCTTCTCTGAGTGGTAAAGG	0.498	S45F(HCC15_LUNG)|S45F(LS180_LARGE_INTESTINE)|T41A(CCK81_LARGE_INTESTINE)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of			
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
ZNF626	199777	broad.mit.edu	37	19	20808112	20808116	+	Frame_Shift_Del	DEL	GTGTA	GTGTA	-			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:20808111_20808115TGTGTA>T	uc002npb.1	-	3	718_722	c.568_572TACACA>A	c.(568-573)acacatfs	p.T190fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.T114fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AATTTTCTTATGTGTAGTAAGAGTT	0.351												
AXL	558	broad.mit.edu	37	19	41745064	41745086	+	Splice_Site	DEL	CCTAGGTGCTAATGGACATAGGG	CCTAGGTGCTAATGGACATAGGG	-			TCGA-D7-8573-01A-11D-2340-08	TCGA-D7-8573-10A-01D-2341-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d708deec-6b8e-4d4b-ab32-3bbb564038a9	1c3ae5aa-6b14-4794-9910-435917bdf4d4	g.chr19:41745063_41745085TCCTAGGTGCTAATGGACATAGGG>T	uc010ehj.3	+	9	1325	c.1135_splice	c.e9-1	p.V379_splice	AXL_uc010ehi.1_Splice_Site_p.V379_splice|AXL_uc010ehk.3_Splice_Site_p.V379_splice	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	379	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTTCTGGACCTCCTAGGTGCTAATGGACATAGGGCTAAGGCAA	0.574